Table 1.
Human pharmacogenetic studies related to direct enzyme targets of lithium and lithium therapy response. BD, bipolar disorder; SNP, single nucleotide polymorphism; PTSD, post-traumatic stress disorder.
| Gene and marker | Subjects | Finding | Reference |
|---|---|---|---|
| Phosphoinositide signaling pathway | |||
| INPP1, A682G, G153T, G348A, C973A | BD patients, European (10M, 13F); Israeli sample (N = 54) | C973A SNP was associated with lithium response. | Steen et al. (1998) |
| IMPA1, IMPA2, multiple SNPs | BD patients, European (N = 44) | No association with lithium response | Sjoholt et al. (2003) |
| INPP1, C973A | BD patients, mixed backgrounds mostly Caucasian (43M, 91F) | No association with lithium response | Michelon et al. (2006) |
| IMPA1, IMPA2, INPP1 multiple SNPs | BD patients and patients with schizoaffective disorder, bipolar type, Caucasian (184) | Significant interaction between lithium response and rs2064721 of INPP1gene and PTSD | Bremer et al. (2007) |
| DGKH, rs9315885, rs1012053, rs1170191 | BD patients, European (59M, 140F) | No association with lithium response | Manchia et al. (2009) |
| GSK-3 | |||
| GSK-3β, rs334558 (−50 T/C) | BD patients, European origin (27M, 61F) | C allele carriers of the SNP showed more improvement after lithium treatment. | Benedetti et al. (2005) |
| GSK-3β, A1727T | BD patients, mixed backgrounds mostly Caucasian (43M, 91F) | No association with lithium response | Michelon et al. (2006) |
| GSK-3β, rs334558 | BD patients (41M, 48F) | No association with lithium response | Szczepankiewicz et al. (2006) |
| GSK-3β, rs334558 | BD/unipolar depression patients mixed, European (35M, 46F) | Carriers of the C allele were associated with a better lithium augmentation of antidepressant treatment. | Adli et al. (2007) |
| GSK-3β, multiple SNPs | BD patients and patients with schizoaffective disorder, bipolar type, Caucasian (184) | Association between rs2199503 and lithium response in patients with PTSD | Bremer et al. (2007) |
| GSK3β, rs6438552 | BD patients, Caucasian (N = 282) | Trend toward association with lithium response | McCarthy et al. (2011) |